2. Gene
  3. GRID2 - glutamate ionotropic receptor delta type subunit 2 Gene

GRID2 - glutamate ionotropic receptor delta type subunit 2 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：谷氨酸离子型受体 δ 型亚基 2

种属: Homo sapiens

同用名: GluD2; SCAR18

基因 ID: 2895 | 基因类型: protein coding

关于 GRID2

Cytogenetic location: 4q22.1-q22.2 Genomic coordinates (GRCh38): 4:92,303,966-93,810,456 (from NCBI)

This gene has 9 transcripts (splice variants), 238 orthologues, 17 paralogues and is associated with 4 phenotypes. Low expression observed in reference dataset.

功能概要

由该基因编码的蛋白质是离子型谷氨酸受体家族的成员，该受体是哺乳动物大脑中主要的兴奋性神经递质受体。编码的蛋白质是一种多通道膜蛋白，在小脑浦肯野细胞中有选择性地表达。小鼠直系同源物中的一个点突变，与名为“lurcher”的表型相关，在杂合状态下导致共济失调，这是由于出生后发育过程中小脑浦肯野细胞的选择性细胞自主凋亡所致。这种突变的纯合小鼠在出生后不久就会死于晚期胚胎发生过程中中脑和后脑神经元的大量损失。这种蛋白质还在平行纤维和浦肯野细胞之间的突触组织中发挥作用。交替剪接导致编码不同异构体的多个转录变体。该基因的突变会导致人类发生小脑性共济失调。[RefSeq 提供，2014 年 4 月]

The protein encoded by this gene is a member of the family of ionotropic glutamate receptors which are the predominant excitatory neurotransmitter receptors in the mammalian brain. The encoded protein is a multi-pass membrane protein that is expressed selectively in cerebellar Purkinje cells. A point mutation in the mouse ortholog, associated with the phenotype named 'lurcher', in the heterozygous state leads to ataxia resulting from selective, cell-autonomous Apoptosis of cerebellar Purkinje cells during postnatal development. Mice homozygous for this mutation die shortly after birth from massive loss of mid- and hindbrain neurons during late embryogenesis. This protein also plays a role in synapse organization between parallel fibers and Purkinje cells. Alternate splicing results in multiple transcript variants encoding distinct isoforms. Mutations in this gene cause cerebellar ataxia in humans. [provided by RefSeq, Apr 2014]

GRID2 基因产物(2)

mRNA Protein Name
NM_001286838.1 NP_001273767.1 glutamate receptor ionotropic, delta-2 isoform 2 precursor
NM_001510.4 NP_001501.2 glutamate receptor ionotropic, delta-2 isoform 1 precursor
基因本体论
  • 分子功能
  • 生物过程
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
27418511 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in excitatory synapse assembly IMP
IMP: 通过突变表型推断
27418511 GOA
involved in positive regulation of long-term synaptic depression IMP
IMP: 通过突变表型推断
27418511 GOA
involved in positive regulation of synapse assembly IMP
IMP: 通过突变表型推断
27418511 GOA
EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

GRID2 蛋白结构

ANF_receptor

ANF_receptor: Receptor family ligand binding region (42 - 401)

SBP_bac_3

SBP_bac_3: Bacterial extracellular solute-binding proteins, family 3 (449 - 805)

Lig_chan

Lig_chan: Ligand-gated ion channel (567 - 842)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 1007 a.a.
蛋白主名 其他名称

glutamate receptor ionotropic, delta-2

gluR delta-2 subunit

关联疾病

疾病名称 别名
Spinocerebellar Ataxia, Autosomal Recessive 18

Autosomal Recessive Spinocerebellar Ataxia 18

SCAR18

Autosomal Recessive Congenital Cerebellar Ataxia Due To Grid2 Deficiency

Autosomal Recessive Congenital Cerebellar Ataxia Due To Ionotropic Glutamate Receptor Delta-2 Subunit Deficiency

Spinocerebellar Ataxia, Autosomal Recessive, 18

Ataxia, Spinocerebellar, Autosomal Recessive, Type 18
Spinocerebellar Ataxia 18

Spinocerebellar Ataxia Type 18

SCA18

Smna

Sensorimotor Neuropathy With Ataxia, Autosomal Dominant

Sensorimotor Neuropathy With Ataxia Autosomal Dominant
Cerebellar Ataxia Type 42

Sca42
Schizophrenia

SCZD

Schizophrenia With Or Without An Affective Disorder

Schizophrenia 12

Schizophrenia, Susceptibility To

Schizophrenia-1

Dementia Praecox

Schizophrenia 1
Hereditary Spastic Paraplegia 51

Autosomal Dominant Spastic Paraplegia 51

Cpsq4

Spastic Quadriplegic Cerebral Palsy 4

Spg51

Spastic Paraplegia 51, Autosomal Recessive
Intellectual Developmental Disorder With Cardiac Arrhythmia

Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome

IDDCA

Intellectual Developmental Disorder, With Cardiac Arrhythmia
Spinocerebellar Ataxia, X-Linked 3

Scax3

X-Linked Spinocerebellar Ataxia 3

X-Linked Ataxia-Deafness Syndrome

X-Linked Spinocerebellar Ataxia Type 3

Ataxia-Deafness Syndrome, X-Linked

Spinocerebellar Ataxia X-Linked Type 3

Ataxia-Deafness Syndrome X-Linked

X-Linked Ataxia-Hearing Loss Syndrome

Spinocerebellar Ataxia, X-Linked, 3
Spinocerebellar Ataxia, X-Linked 4

Scax4

X-Linked Spinocerebellar Ataxia 4

X-Linked Ataxia-Dementia Syndrome

X-Linked Spinocerebellar Ataxia Type 4

Ataxia-Dementia Syndrome, X-Linked

Spinocerebellar Ataxia X-Linked Type 4

Ataxia-Dementia Syndrome X-Linked

Spinocerebellar Ataxia, X-Linked, 4
Depersonalization Disorder

Neurotic Derealization

Depersonalization

Depersonalization/Derealization Disorder

Depersonalisation-Derealization Syndrome

Depersonalisation Disorder

Depersonalisation Neurosis

Depersonalisation Syndrome

Feeling Of Unreality

Feels Own Self Is Unreal

Neurotic State With Depersonalisation

Neurotic State With Depersonalization Episode
Spinocerebellar Ataxia 5

Spinocerebellar Ataxia Type 5

SCA5

Spinocerebellar Ataxia-5

Ataxia, Spinocerebellar, Type 5
Spinocerebellar Ataxia, Autosomal Recessive 20

Autosomal Recessive Spinocerebellar Ataxia 20

SCAR20

Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome

Autosomal Recessive Spinocerebellar Ataxia Type 20

Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypoplasia Syndrome

Spinocerebellar Ataxia, Autosomal Recessive, 20

Ataxia, Spinocerebellar, Autosomal Recessive, Type 20
Cerebellar Disease

Cerebellar Diseases

Cerebellar Dysfunction

Cerebellar Abnormality

Cerebellar Disorders
Hereditary Ataxia

Sca

Spinocerebellar Ataxia

Ataxias Hereditary

Ataxias, Hereditary
Episodic Ataxia

Isaacs Syndrome

Neuromyotonia

Isaacs' Syndrome

Acquired Neuromyotonia

Continuous Muscle Fiber Activity Syndrome

Quantal Squander Syndrome

Isaacs-Mertens Syndrome

Ea Syndrome

Episodic Ataxia Syndrome

Isaac Syndrome

Isaac'S-Merten'S Syndrome

Isaac-Mertens Syndrome

Peripheral Nerve Hyperexcitability

Ea

Peripheral Nerve Hyperexcitability Syndrome

Ataxia, Episodic

Isaacs Neuromyotonia

Continuous Muscle Fibre Activity
Autosomal Dominant Cerebellar Ataxia

Spinocerebellar Ataxia

Adca

Pierre Marie Cerebellar Ataxia

Ataxia, Spinocerebellar

Sca

Autosomal Dominant Spinocerebellar Ataxia

Spinocerebellar Ataxias
Fundus Dystrophy

Retinal Dystrophy

Retinal Dystrophies

Dystrophy, Retinal
疾病名称 别名
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS05796 GRID2 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Bos taurus GRID2 VGNC VGNC:106760
Felis catus GRID2 VGNC VGNC:67465
Canis familiaris GRID2 VGNC VGNC:41484
Rattus norvegicus GRID2 RGD RGD:68368
Mus musculus GRID2 MGD MGI:95813
Macaca mulatta GRID2 VGNC VGNC:73276
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